TY - JOUR
T1 - A novel mutation of the folliculin gene causing Birt-Hogg-Dubé syndrome as rare cause for secondary pneumothorax
AU - Vogl, Melanie
AU - Scheed, Axel
AU - Seebacher, Gernot
AU - Stubenberger, Elisabeth
AU - Ghanim, Bahil
N1 - Publisher Copyright:
© 2020 The Author(s) 2020. Published by Oxford University Press.
PY - 2020/3/30
Y1 - 2020/3/30
N2 - The Birt-Hogg-Dubé syndrome is an orphan genetic disease characterized by the development of renal neoplasms, fibrofolliculomas, pulmonary cysts and spontaneous pneumothoraces. Here, we report on the case of a 21-year-old man presenting with a primary event of a persistent spontaneous pneumothorax. Computed tomography images and a positive family history for pneumothoraces led to the suspicion of Birt-Hogg-Dubé syndrome. Genetic testing then confirmed the suspected clinical diagnosis, however with a mutation that has not yet been reported.
AB - The Birt-Hogg-Dubé syndrome is an orphan genetic disease characterized by the development of renal neoplasms, fibrofolliculomas, pulmonary cysts and spontaneous pneumothoraces. Here, we report on the case of a 21-year-old man presenting with a primary event of a persistent spontaneous pneumothorax. Computed tomography images and a positive family history for pneumothoraces led to the suspicion of Birt-Hogg-Dubé syndrome. Genetic testing then confirmed the suspected clinical diagnosis, however with a mutation that has not yet been reported.
UR - http://www.scopus.com/inward/record.url?scp=85083917766&partnerID=8YFLogxK
U2 - 10.1093/omcr/omaa016
DO - 10.1093/omcr/omaa016
M3 - Journal article
C2 - 32257251
SN - 2053-8855
VL - 2020
SP - 97
EP - 98
JO - Oxford Medical Case Reports
JF - Oxford Medical Case Reports
IS - 3
M1 - omaa016
ER -